A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1003683



Internal ID19092901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:98244073..98264877hg38UCSC Ensembl
Innerchr2:98860536..98881340hg19UCSC Ensembl
Innerchr2:98226968..98247772hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3820805
hg1920805
hg1820805
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4028n100
Supporting Variantsnssv3580075
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)nsv1003683
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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