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dbVar

Database of genomic structural variation

nsv4386762

Organism: Homo sapiens

Study:nstd173 (Zarrei et al. 2019)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:GRCh37 (hg19)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:40,004

Publication(s):Zarrei et al. 2019

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: 766 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):42,522,345-42,562,348

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4386762	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000022.11	Chr22	42,522,345	42,562,348
nsv4386762	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000022.10	Chr22	42,918,351	42,958,354

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv15661806	copy number gain	4-0036-002	SNP array	Genotyping	19
nssv15673891	copy number gain	9-0024-003	SNP array	Genotyping	23
nssv15674957	copy number gain	206765	SNP array	Genotyping	32
nssv15682858	copy number gain	OCD1157-HAM493	SNP array	Genotyping	25
nssv15701964	copy number gain	196407	SNP array	Genotyping	23

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15661806	Remapped	Perfect	NC_000022.11:g.(?_ 42522345)_(4256234 8_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,345	42,562,348
nssv15673891	Remapped	Perfect	NC_000022.11:g.(?_ 42522345)_(4256234 8_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,345	42,562,348
nssv15674957	Remapped	Perfect	NC_000022.11:g.(?_ 42522345)_(4256234 8_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,345	42,562,348
nssv15682858	Remapped	Perfect	NC_000022.11:g.(?_ 42522345)_(4256234 8_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,345	42,562,348
nssv15701964	Remapped	Perfect	NC_000022.11:g.(?_ 42522345)_(4256234 8_?)dup	GRCh38.p12	First Pass	NC_000022.11	Chr22	42,522,345	42,562,348
nssv15661806	Submitted genomic		NC_000022.10:g.(?_ 42918351)_(4295835 4_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,351	42,958,354
nssv15673891	Submitted genomic		NC_000022.10:g.(?_ 42918351)_(4295835 4_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,351	42,958,354
nssv15674957	Submitted genomic		NC_000022.10:g.(?_ 42918351)_(4295835 4_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,351	42,958,354
nssv15682858	Submitted genomic		NC_000022.10:g.(?_ 42918351)_(4295835 4_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,351	42,958,354
nssv15701964	Submitted genomic		NC_000022.10:g.(?_ 42918351)_(4295835 4_?)dup	GRCh37 (hg19)		NC_000022.10	Chr22	42,918,351	42,958,354

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

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