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dbVar

Database of genomic structural variation

nsv441850

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:49,046

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

Remapped(Score: Perfect):173,522,845-173,571,890

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv441850	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	173,522,845	173,571,890
nsv441850	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000003.11	Chr3	173,240,635	173,289,680
nsv441850	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000003.9	Chr3	174,723,337	174,772,382

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1657409	copy number gain	NA12057	SNP array	Probe signal intensity	3	165
nssv1657410	copy number gain	NA12155	SNP array	Probe signal intensity	3	152
nssv1657411	copy number gain	NA12716	SNP array	Probe signal intensity	3	144
nssv1657412	copy number gain	NA12892	SNP array	Probe signal intensity	3	153

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1657409	Remapped	Perfect	NC_000003.12:g.(?_ 173522845)_(173571 890_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	173,522,845	173,571,890
nssv1657410	Remapped	Perfect	NC_000003.12:g.(?_ 173522845)_(173571 890_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	173,522,845	173,571,890
nssv1657411	Remapped	Perfect	NC_000003.12:g.(?_ 173522845)_(173571 890_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	173,522,845	173,571,890
nssv1657412	Remapped	Perfect	NC_000003.12:g.(?_ 173522845)_(173571 890_?)dup	GRCh38.p12	First Pass	NC_000003.12	Chr3	173,522,845	173,571,890
nssv1657409	Remapped	Perfect	NC_000003.11:g.(?_ 173240635)_(173289 680_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	173,240,635	173,289,680
nssv1657410	Remapped	Perfect	NC_000003.11:g.(?_ 173240635)_(173289 680_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	173,240,635	173,289,680
nssv1657411	Remapped	Perfect	NC_000003.11:g.(?_ 173240635)_(173289 680_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	173,240,635	173,289,680
nssv1657412	Remapped	Perfect	NC_000003.11:g.(?_ 173240635)_(173289 680_?)dup	GRCh37.p13	First Pass	NC_000003.11	Chr3	173,240,635	173,289,680
nssv1657409	Submitted genomic		NC_000003.9:g.(?_1 74723337)_(1747723 82_?)dup	NCBI35 (hg17)		NC_000003.9	Chr3	174,723,337	174,772,382
nssv1657410	Submitted genomic		NC_000003.9:g.(?_1 74723337)_(1747723 82_?)dup	NCBI35 (hg17)		NC_000003.9	Chr3	174,723,337	174,772,382
nssv1657411	Submitted genomic		NC_000003.9:g.(?_1 74723337)_(1747723 82_?)dup	NCBI35 (hg17)		NC_000003.9	Chr3	174,723,337	174,772,382
nssv1657412	Submitted genomic		NC_000003.9:g.(?_1 74723337)_(1747723 82_?)dup	NCBI35 (hg17)		NC_000003.9	Chr3	174,723,337	174,772,382

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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