A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516482



Internal ID15097089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:162138329..162905405hg38UCSC Ensembl
Innerchr1:162108119..162875195hg19UCSC Ensembl
Innerchr1:160374743..161141819hg18UCSC Ensembl
Innerchr1:158839777..159606853hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38767077
hg19767077
hg18767077
hg17767077
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697575, nssv668654, nssv705301, nssv678768, nssv662445, nssv654684, nssv696690, nssv702375, nssv673362, nssv696338, nssv705937, nssv654585
Samples
Known GenesC1orf110, C1orf111, C1orf226, DDR2, HSD17B7, MIR4654, MIR556, NOS1AP, SH2D1B, UAP1, UHMK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516482
Frequency
Sample Size2026
Observed Gain4
Observed Loss8
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer