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dbVar

Database of genomic structural variation

nsv442453

Organism: Homo sapiens

Study:nstd22 (McCarroll et al. 2008)
Variant Type:copy number variation
Method Type:SNP array
Submitted on:NCBI35 (hg17)

Variant Calls:4
Validation:Not tested
Clinical Assertions: No
Region Size:30,043

Publication(s):McCarroll 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: 330 SVs from 60 studies. See in: genome view

Remapped(Score: Perfect):12,405,332-12,435,374

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv442453	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	12,405,332	12,435,374
nsv442453	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000019.9	Chr19	12,516,146	12,546,188
nsv442453	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000019.8	Chr19	12,377,146	12,407,188

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1660388	copy number gain	NA12044	SNP array	Probe signal intensity	3	163
nssv1660389	copy number gain	NA19131	SNP array	Probe signal intensity	3	187
nssv1660390	copy number gain	NA19207	SNP array	Probe signal intensity	3	149
nssv1660391	copy number gain	NA19208	SNP array	Probe signal intensity	3	155

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1660388	Remapped	Perfect	NC_000019.10:g.(?_ 12405332)_(1243537 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,405,332	12,435,374
nssv1660389	Remapped	Perfect	NC_000019.10:g.(?_ 12405332)_(1243537 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,405,332	12,435,374
nssv1660390	Remapped	Perfect	NC_000019.10:g.(?_ 12405332)_(1243537 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,405,332	12,435,374
nssv1660391	Remapped	Perfect	NC_000019.10:g.(?_ 12405332)_(1243537 4_?)dup	GRCh38.p12	First Pass	NC_000019.10	Chr19	12,405,332	12,435,374
nssv1660388	Remapped	Perfect	NC_000019.9:g.(?_1 2516146)_(12546188 _?)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	12,516,146	12,546,188
nssv1660389	Remapped	Perfect	NC_000019.9:g.(?_1 2516146)_(12546188 _?)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	12,516,146	12,546,188
nssv1660390	Remapped	Perfect	NC_000019.9:g.(?_1 2516146)_(12546188 _?)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	12,516,146	12,546,188
nssv1660391	Remapped	Perfect	NC_000019.9:g.(?_1 2516146)_(12546188 _?)dup	GRCh37.p13	First Pass	NC_000019.9	Chr19	12,516,146	12,546,188
nssv1660388	Submitted genomic		NC_000019.8:g.(?_1 2377146)_(12407188 _?)dup	NCBI35 (hg17)		NC_000019.8	Chr19	12,377,146	12,407,188
nssv1660389	Submitted genomic		NC_000019.8:g.(?_1 2377146)_(12407188 _?)dup	NCBI35 (hg17)		NC_000019.8	Chr19	12,377,146	12,407,188
nssv1660390	Submitted genomic		NC_000019.8:g.(?_1 2377146)_(12407188 _?)dup	NCBI35 (hg17)		NC_000019.8	Chr19	12,377,146	12,407,188
nssv1660391	Submitted genomic		NC_000019.8:g.(?_1 2377146)_(12407188 _?)dup	NCBI35 (hg17)		NC_000019.8	Chr19	12,377,146	12,407,188

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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