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dbVar

Database of genomic structural variation

nsv442108

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: No
Region Size:44,431

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: 289 SVs from 50 studies. See in: genome view

Remapped(Score: Perfect):56,137,362-56,181,792

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv442108	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	56,137,362	56,181,792
nsv442108	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000008.10	Chr8	57,049,921	57,094,351
nsv442108	Submitted genomic		NCBI35 (hg17)	Primary Assembly		NC_000008.9	Chr8	57,212,475	57,256,905

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Copy number	Other Calls in this Sample and Study
nssv1658665	copy number gain	NA12156	SNP array	Probe signal intensity	3	153
nssv1658666	copy number gain	NA12875	SNP array	Probe signal intensity	3	146

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1658665	Remapped	Perfect	NC_000008.11:g.(?_ 56137362)_(5618179 2_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	56,137,362	56,181,792
nssv1658666	Remapped	Perfect	NC_000008.11:g.(?_ 56137362)_(5618179 2_?)dup	GRCh38.p12	First Pass	NC_000008.11	Chr8	56,137,362	56,181,792
nssv1658665	Remapped	Perfect	NC_000008.10:g.(?_ 57049921)_(5709435 1_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	57,049,921	57,094,351
nssv1658666	Remapped	Perfect	NC_000008.10:g.(?_ 57049921)_(5709435 1_?)dup	GRCh37.p13	First Pass	NC_000008.10	Chr8	57,049,921	57,094,351
nssv1658665	Submitted genomic		NC_000008.9:g.(?_5 7212475)_(57256905 _?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	57,212,475	57,256,905
nssv1658666	Submitted genomic		NC_000008.9:g.(?_5 7212475)_(57256905 _?)dup	NCBI35 (hg17)		NC_000008.9	Chr8	57,212,475	57,256,905

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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