A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1010376



Internal ID19099593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98241845..98261581hg38UCSC Ensembl
Innerchr2:98858308..98878044hg19UCSC Ensembl
Innerchr2:98224740..98244476hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3819737
hg1919737
hg1819737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4028n100
Supporting Variantsnssv3580053, nssv3580060, nssv3580056, nssv3580054, nssv3580058, nssv3580050, nssv3580055, nssv3580051, nssv3580059, nssv3580057, nssv3580052
Samples
Known GenesVWA3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1010376
Frequency
Sample Size11257
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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