A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1002095



Internal ID18744626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:151794802..151825513hg38UCSC Ensembl
Innerchr3:151512590..151543301hg19UCSC Ensembl
Innerchr3:152995280..153025991hg18UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg3830712
hg1930712
hg1830712
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4921n100
Supporting Variantsnssv3606307, nssv3606321, nssv3606318, nssv3606316, nssv3606323, nssv3606324, nssv3606319, nssv3606309, nssv3606308, nssv3606311, nssv3606310, nssv3606320, nssv3606313, nssv3606325, nssv3606306, nssv3741534, nssv3606312, nssv3741535, nssv3606314, nssv3606322, nssv3606317, nssv3606315
Samples
Known GenesAADAC, MIR548H2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1002095
Frequency
Sample Size29084
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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