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dbVar

Database of genomic structural variation

nsv442526

Organism: Homo sapiens

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

Variant Calls:6
Validation:Not tested
Clinical Assertions: No
Region Size:126,009

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

Remapped(Score: Perfect):189,358,005-189,484,013

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv442526	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	189,358,005	189,484,013
nsv442526	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000001.10	Chr1	189,327,135	189,453,143
nsv442526	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000001.8	Chr1	186,058,792	186,184,800

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1619194	copy number loss	NA18542	SNP array	Probe signal intensity	1	177
nssv1619195	copy number loss	NA18552	SNP array	Probe signal intensity	1	168
nssv1619196	copy number loss	NA18562	SNP array	Probe signal intensity	1	168
nssv1619197	copy number loss	NA18967	SNP array	Probe signal intensity	1	145
nssv1619198	copy number loss	NA18975	SNP array	Probe signal intensity	1	159
nssv1619199	copy number loss	NA18981	SNP array	Probe signal intensity	1	149

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1619194	Remapped	Perfect	NC_000001.11:g.(?_ 189358005)_(189484 013_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,005	189,484,013
nssv1619195	Remapped	Perfect	NC_000001.11:g.(?_ 189358005)_(189484 013_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,005	189,484,013
nssv1619196	Remapped	Perfect	NC_000001.11:g.(?_ 189358005)_(189484 013_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,005	189,484,013
nssv1619197	Remapped	Perfect	NC_000001.11:g.(?_ 189358005)_(189484 013_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,005	189,484,013
nssv1619198	Remapped	Perfect	NC_000001.11:g.(?_ 189358005)_(189484 013_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,005	189,484,013
nssv1619199	Remapped	Perfect	NC_000001.11:g.(?_ 189358005)_(189484 013_?)del	GRCh38.p12	First Pass	NC_000001.11	Chr1	189,358,005	189,484,013
nssv1619194	Remapped	Perfect	NC_000001.10:g.(?_ 189327135)_(189453 143_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,327,135	189,453,143
nssv1619195	Remapped	Perfect	NC_000001.10:g.(?_ 189327135)_(189453 143_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,327,135	189,453,143
nssv1619196	Remapped	Perfect	NC_000001.10:g.(?_ 189327135)_(189453 143_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,327,135	189,453,143
nssv1619197	Remapped	Perfect	NC_000001.10:g.(?_ 189327135)_(189453 143_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,327,135	189,453,143
nssv1619198	Remapped	Perfect	NC_000001.10:g.(?_ 189327135)_(189453 143_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,327,135	189,453,143
nssv1619199	Remapped	Perfect	NC_000001.10:g.(?_ 189327135)_(189453 143_?)del	GRCh37.p13	First Pass	NC_000001.10	Chr1	189,327,135	189,453,143
nssv1619194	Submitted genomic		NC_000001.8:g.(?_1 86058792)_(1861848 00_?)del	NCBI35 (hg17)		NC_000001.8	Chr1	186,058,792	186,184,800
nssv1619195	Submitted genomic		NC_000001.8:g.(?_1 86058792)_(1861848 00_?)del	NCBI35 (hg17)		NC_000001.8	Chr1	186,058,792	186,184,800
nssv1619196	Submitted genomic		NC_000001.8:g.(?_1 86058792)_(1861848 00_?)del	NCBI35 (hg17)		NC_000001.8	Chr1	186,058,792	186,184,800
nssv1619197	Submitted genomic		NC_000001.8:g.(?_1 86058792)_(1861848 00_?)del	NCBI35 (hg17)		NC_000001.8	Chr1	186,058,792	186,184,800
nssv1619198	Submitted genomic		NC_000001.8:g.(?_1 86058792)_(1861848 00_?)del	NCBI35 (hg17)		NC_000001.8	Chr1	186,058,792	186,184,800
nssv1619199	Submitted genomic		NC_000001.8:g.(?_1 86058792)_(1861848 00_?)del	NCBI35 (hg17)		NC_000001.8	Chr1	186,058,792	186,184,800

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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