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dbVar

Database of genomic structural variation

nsv471648

Organism: Homo sapiens

Study:nstd32 (Sharp et al. 2005)
Variant Type:copy number variation
Method Type:BAC aCGH
Submitted on:NCBI34 (hg16)

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:277,581

Publication(s):Sharp et al. 2005

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: 1252 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):153,783,566-154,061,146

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv471648	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	153,783,566	154,061,146
nsv471648	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000007.13	Chr7	153,480,651	153,758,231
nsv471648	Submitted genomic		NCBI34 (hg16)	Primary Assembly		NC_000007.10	Chr7	152,872,391	153,149,971

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Other Calls in this Sample and Study
nssv548947	copy number gain	GM17015	BAC aCGH	Probe signal intensity	60
nssv548948	copy number gain	GM17058	BAC aCGH	Probe signal intensity	54
nssv550236	copy number loss	GM10492A	BAC aCGH	Probe signal intensity	47
nssv550237	copy number gain	GM17015	BAC aCGH	Probe signal intensity	60
nssv550238	copy number gain	GM17058	BAC aCGH	Probe signal intensity	54

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv548947	Remapped	Perfect	NC_000007.14:g.(?_ 153783566)_(153936 184_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	153,783,566	153,936,184
nssv548948	Remapped	Perfect	NC_000007.14:g.(?_ 153783566)_(153936 184_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	153,783,566	153,936,184
nssv550236	Remapped	Perfect	NC_000007.14:g.(?_ 153901723)_(154061 146_?)del	GRCh38.p12	First Pass	NC_000007.14	Chr7	153,901,723	154,061,146
nssv550237	Remapped	Perfect	NC_000007.14:g.(?_ 153901723)_(154061 146_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	153,901,723	154,061,146
nssv550238	Remapped	Perfect	NC_000007.14:g.(?_ 153901723)_(154061 146_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	153,901,723	154,061,146
nssv548947	Remapped	Perfect	NC_000007.13:g.(?_ 153480651)_(153633 269_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	153,480,651	153,633,269
nssv548948	Remapped	Perfect	NC_000007.13:g.(?_ 153480651)_(153633 269_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	153,480,651	153,633,269
nssv550236	Remapped	Perfect	NC_000007.13:g.(?_ 153598808)_(153758 231_?)del	GRCh37.p13	First Pass	NC_000007.13	Chr7	153,598,808	153,758,231
nssv550237	Remapped	Perfect	NC_000007.13:g.(?_ 153598808)_(153758 231_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	153,598,808	153,758,231
nssv550238	Remapped	Perfect	NC_000007.13:g.(?_ 153598808)_(153758 231_?)dup	GRCh37.p13	First Pass	NC_000007.13	Chr7	153,598,808	153,758,231
nssv548947	Submitted genomic		NC_000007.10:g.(?_ 152872391)_(153025 009_?)dup	NCBI34 (hg16)		NC_000007.10	Chr7	152,872,391	153,025,009
nssv548948	Submitted genomic		NC_000007.10:g.(?_ 152872391)_(153025 009_?)dup	NCBI34 (hg16)		NC_000007.10	Chr7	152,872,391	153,025,009
nssv550236	Submitted genomic		NC_000007.10:g.(?_ 152990548)_(153149 971_?)del	NCBI34 (hg16)		NC_000007.10	Chr7	152,990,548	153,149,971
nssv550237	Submitted genomic		NC_000007.10:g.(?_ 152990548)_(153149 971_?)dup	NCBI34 (hg16)		NC_000007.10	Chr7	152,990,548	153,149,971
nssv550238	Submitted genomic		NC_000007.10:g.(?_ 152990548)_(153149 971_?)dup	NCBI34 (hg16)		NC_000007.10	Chr7	152,990,548	153,149,971

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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