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dbVar

Database of genomic structural variation

nsv469636

Organism: Homo sapiens

Study:nstd29 (Locke et al. 2006)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI34 (hg16)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:90,500

Publication(s):Locke et al. 2006

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: 684 SVs from 86 studies. See in: genome view

Remapped(Score: Perfect):65,515,625-65,606,124

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv469636	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	65,515,625	65,606,124
nsv469636	Remapped	Pass	GRCh37.p13	Primary Assembly	Second Pass	NC_000007.13	Chr7	65,012,083	65,071,037
nsv469636	Remapped	Pass	GRCh37.p13	PATCHES	First Pass	NW_004775430.1	Chr7\|NW_00 4775430.1	1	58,955
nsv469636	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000007.10	Chr7	64,392,228	64,482,727

Variant Call Information

Variant Call ID	Type	Method	Analysis
nssv1673287	copy number gain	BAC aCGH	Probe signal intensity
nssv1673697	copy number gain	BAC aCGH	Probe signal intensity
nssv1674573	copy number gain	BAC aCGH	Probe signal intensity
nssv1676439	copy number gain	BAC aCGH	Probe signal intensity

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1673287	Remapped	Perfect	NC_000007.14:g.(?_ 65515625)_(6560612 4_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,515,625	65,606,124
nssv1673697	Remapped	Perfect	NC_000007.14:g.(?_ 65515625)_(6560612 4_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,515,625	65,606,124
nssv1674573	Remapped	Perfect	NC_000007.14:g.(?_ 65515625)_(6560612 4_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,515,625	65,606,124
nssv1676439	Remapped	Perfect	NC_000007.14:g.(?_ 65515625)_(6560612 4_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	65,515,625	65,606,124
nssv1673287	Remapped	Pass	NW_004775430.1:g.( ?_1)_(58955_?)dup	GRCh37.p13	First Pass	NW_004775430.1	Chr7\|NW_00 4775430.1	1	58,955
nssv1673697	Remapped	Pass	NW_004775430.1:g.( ?_1)_(58955_?)dup	GRCh37.p13	First Pass	NW_004775430.1	Chr7\|NW_00 4775430.1	1	58,955
nssv1674573	Remapped	Pass	NW_004775430.1:g.( ?_1)_(58955_?)dup	GRCh37.p13	First Pass	NW_004775430.1	Chr7\|NW_00 4775430.1	1	58,955
nssv1676439	Remapped	Pass	NW_004775430.1:g.( ?_1)_(58955_?)dup	GRCh37.p13	First Pass	NW_004775430.1	Chr7\|NW_00 4775430.1	1	58,955
nssv1673287	Remapped	Pass	NC_000007.13:g.(?_ 65012083)_(6507103 7_?)dup	GRCh37.p13	Second Pass	NC_000007.13	Chr7	65,012,083	65,071,037
nssv1673697	Remapped	Pass	NC_000007.13:g.(?_ 65012083)_(6507103 7_?)dup	GRCh37.p13	Second Pass	NC_000007.13	Chr7	65,012,083	65,071,037
nssv1674573	Remapped	Pass	NC_000007.13:g.(?_ 65012083)_(6507103 7_?)dup	GRCh37.p13	Second Pass	NC_000007.13	Chr7	65,012,083	65,071,037
nssv1676439	Remapped	Pass	NC_000007.13:g.(?_ 65012083)_(6507103 7_?)dup	GRCh37.p13	Second Pass	NC_000007.13	Chr7	65,012,083	65,071,037
nssv1673287	Submitted genomic		NC_000007.10:g.(?_ 64392228)_(6448272 7_?)dup	NCBI34 (hg16)		NC_000007.10	Chr7	64,392,228	64,482,727
nssv1673697	Submitted genomic		NC_000007.10:g.(?_ 64392228)_(6448272 7_?)dup	NCBI34 (hg16)		NC_000007.10	Chr7	64,392,228	64,482,727
nssv1674573	Submitted genomic		NC_000007.10:g.(?_ 64392228)_(6448272 7_?)dup	NCBI34 (hg16)		NC_000007.10	Chr7	64,392,228	64,482,727
nssv1676439	Submitted genomic		NC_000007.10:g.(?_ 64392228)_(6448272 7_?)dup	NCBI34 (hg16)		NC_000007.10	Chr7	64,392,228	64,482,727

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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