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dbVar

Database of genomic structural variation

nsv428390

Organism: Homo sapiens

Study:nstd8 (Perry et al. 2008b)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI36 (hg18)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:255,616

Publication(s):Perry et al. 2008

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: 1440 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):35,638,900-35,894,515

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv428390	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	35,638,900	35,894,515
nsv428390	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000002.11	Chr2	35,863,966	36,119,581
nsv428390	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000002.10	Chr2	35,717,470	35,973,085

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv453709	copy number loss	HGDP00449	BAC aCGH	Probe signal intensity	126
nssv453720	copy number loss	HGDP00450	BAC aCGH	Probe signal intensity	88
nssv453731	copy number loss	HGDP00462	BAC aCGH	Probe signal intensity	83
nssv453742	copy number loss	HGDP01087	BAC aCGH	Probe signal intensity	75
nssv453753	copy number loss	NA19189	BAC aCGH	Probe signal intensity	94

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv453709	Remapped	Perfect	NC_000002.12:g.(?_ 35638900)_(3589451 5_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	35,638,900	35,894,515
nssv453720	Remapped	Perfect	NC_000002.12:g.(?_ 35638900)_(3589451 5_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	35,638,900	35,894,515
nssv453731	Remapped	Perfect	NC_000002.12:g.(?_ 35638900)_(3589451 5_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	35,638,900	35,894,515
nssv453742	Remapped	Perfect	NC_000002.12:g.(?_ 35638900)_(3589451 5_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	35,638,900	35,894,515
nssv453753	Remapped	Perfect	NC_000002.12:g.(?_ 35638900)_(3589451 5_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	35,638,900	35,894,515
nssv453709	Remapped	Perfect	NC_000002.11:g.(?_ 35863966)_(3611958 1_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	35,863,966	36,119,581
nssv453720	Remapped	Perfect	NC_000002.11:g.(?_ 35863966)_(3611958 1_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	35,863,966	36,119,581
nssv453731	Remapped	Perfect	NC_000002.11:g.(?_ 35863966)_(3611958 1_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	35,863,966	36,119,581
nssv453742	Remapped	Perfect	NC_000002.11:g.(?_ 35863966)_(3611958 1_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	35,863,966	36,119,581
nssv453753	Remapped	Perfect	NC_000002.11:g.(?_ 35863966)_(3611958 1_?)del	GRCh37.p13	First Pass	NC_000002.11	Chr2	35,863,966	36,119,581
nssv453709	Submitted genomic		NC_000002.10:g.(?_ 35717470)_(3597308 5_?)del	NCBI36 (hg18)		NC_000002.10	Chr2	35,717,470	35,973,085
nssv453720	Submitted genomic		NC_000002.10:g.(?_ 35717470)_(3597308 5_?)del	NCBI36 (hg18)		NC_000002.10	Chr2	35,717,470	35,973,085
nssv453731	Submitted genomic		NC_000002.10:g.(?_ 35717470)_(3597308 5_?)del	NCBI36 (hg18)		NC_000002.10	Chr2	35,717,470	35,973,085
nssv453742	Submitted genomic		NC_000002.10:g.(?_ 35717470)_(3597308 5_?)del	NCBI36 (hg18)		NC_000002.10	Chr2	35,717,470	35,973,085
nssv453753	Submitted genomic		NC_000002.10:g.(?_ 35717470)_(3597308 5_?)del	NCBI36 (hg18)		NC_000002.10	Chr2	35,717,470	35,973,085

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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