nsv6627895

Organism: Homo sapiens

Study:nstd224 (Zarrei et al. 2023)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37

Variant Calls:12
Validation:Not tested
Clinical Assertions: No
Region Size:53,348

Publication(s):Zarrei et al. 2023

Links to Other Resources

Overlapping Genes

Source: NCBI

Genome View
Variant Region Details and Evidence
Validation Information
Clinical Assertions
Genotype Information

Genome View

Select assembly:

Overlapping variant regions from other studies: 591 SVs from 75 studies. See in: genome view

Remapped(Score: Perfect):57,175,067-57,228,414

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6627895	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nsv6627895	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	57,402,202	57,455,549

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv18302950	duplication	OSC5929	SNP array	Probe signal intensity	10
nssv18303549	duplication	OSC5913	SNP array	Probe signal intensity	15
nssv18304161	duplication	OSC6146	SNP array	Probe signal intensity	15
nssv18305855	duplication	OSC6456	SNP array	Probe signal intensity	13
nssv18308516	duplication	OSC6788	SNP array	Probe signal intensity	9
nssv18311489	duplication	OSC7585	SNP array	Probe signal intensity	14
nssv18311614	duplication	OSC7392	SNP array	Probe signal intensity	10
nssv18314711	duplication	OSC7918	SNP array	Probe signal intensity	9
nssv18316173	duplication	OSC8256	SNP array	Probe signal intensity	9
nssv18317583	duplication	OSC8573	SNP array	Probe signal intensity	10
nssv18319486	duplication	OSC8804	SNP array	Probe signal intensity	11
nssv18320157	duplication	OSC8805	SNP array	Probe signal intensity	12

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18302950	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18303549	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18304161	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18305855	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18308516	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18311489	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18311614	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18314711	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18316173	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18317583	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18319486	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18320157	Remapped	Perfect	NC_000002.12:g.(?_ 57175067)_(5722841 4_?)dup	GRCh38.p12	First Pass	NC_000002.12	Chr2	57,175,067	57,228,414
nssv18302950	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18303549	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18304161	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18305855	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18308516	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18311489	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18311614	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18314711	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18316173	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18317583	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18319486	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549
nssv18320157	Submitted genomic		NC_000002.11:g.(?_ 57402202)_(5745554 9_?)dup	GRCh37 (hg19)		NC_000002.11	Chr2	57,402,202	57,455,549

dbVar

Database of genomic structural variation

nsv6627895

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant