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dbVar

Database of genomic structural variation

nsv441935

Organism: Homo sapiens

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

Variant Calls:5
Validation:Not tested
Clinical Assertions: No
Region Size:47,437

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: 1244 SVs from 80 studies. See in: genome view

Remapped(Score: Perfect):68,560-115,996

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv441935	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	68,560	115,996
nsv441935	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000005.9	Chr5	68,675	116,111
nsv441935	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000005.8	Chr5	121,675	169,111

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1657833	copy number gain	NA12753	SNP array	Probe signal intensity	3	168
nssv1657834	copy number gain	NA12760	SNP array	Probe signal intensity	3	153
nssv1657835	copy number gain	NA12763	SNP array	Probe signal intensity	3	170
nssv1657836	copy number gain	NA12864	SNP array	Probe signal intensity	3	145
nssv1657837	copy number gain	NA12872	SNP array	Probe signal intensity	3	154

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1657833	Remapped	Perfect	NC_000005.10:g.(?_ 68560)_(115996_?)d up	GRCh38.p12	First Pass	NC_000005.10	Chr5	68,560	115,996
nssv1657834	Remapped	Perfect	NC_000005.10:g.(?_ 68560)_(115996_?)d up	GRCh38.p12	First Pass	NC_000005.10	Chr5	68,560	115,996
nssv1657835	Remapped	Perfect	NC_000005.10:g.(?_ 68560)_(115996_?)d up	GRCh38.p12	First Pass	NC_000005.10	Chr5	68,560	115,996
nssv1657836	Remapped	Perfect	NC_000005.10:g.(?_ 68560)_(115996_?)d up	GRCh38.p12	First Pass	NC_000005.10	Chr5	68,560	115,996
nssv1657837	Remapped	Perfect	NC_000005.10:g.(?_ 68560)_(115996_?)d up	GRCh38.p12	First Pass	NC_000005.10	Chr5	68,560	115,996
nssv1657833	Remapped	Perfect	NC_000005.9:g.(?_6 8675)_(116111_?)du p	GRCh37.p13	First Pass	NC_000005.9	Chr5	68,675	116,111
nssv1657834	Remapped	Perfect	NC_000005.9:g.(?_6 8675)_(116111_?)du p	GRCh37.p13	First Pass	NC_000005.9	Chr5	68,675	116,111
nssv1657835	Remapped	Perfect	NC_000005.9:g.(?_6 8675)_(116111_?)du p	GRCh37.p13	First Pass	NC_000005.9	Chr5	68,675	116,111
nssv1657836	Remapped	Perfect	NC_000005.9:g.(?_6 8675)_(116111_?)du p	GRCh37.p13	First Pass	NC_000005.9	Chr5	68,675	116,111
nssv1657837	Remapped	Perfect	NC_000005.9:g.(?_6 8675)_(116111_?)du p	GRCh37.p13	First Pass	NC_000005.9	Chr5	68,675	116,111
nssv1657833	Submitted genomic		NC_000005.8:g.(?_1 21675)_(169111_?)d up	NCBI35 (hg17)		NC_000005.8	Chr5	121,675	169,111
nssv1657834	Submitted genomic		NC_000005.8:g.(?_1 21675)_(169111_?)d up	NCBI35 (hg17)		NC_000005.8	Chr5	121,675	169,111
nssv1657835	Submitted genomic		NC_000005.8:g.(?_1 21675)_(169111_?)d up	NCBI35 (hg17)		NC_000005.8	Chr5	121,675	169,111
nssv1657836	Submitted genomic		NC_000005.8:g.(?_1 21675)_(169111_?)d up	NCBI35 (hg17)		NC_000005.8	Chr5	121,675	169,111
nssv1657837	Submitted genomic		NC_000005.8:g.(?_1 21675)_(169111_?)d up	NCBI35 (hg17)		NC_000005.8	Chr5	121,675	169,111

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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