A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1007347



Internal ID19096566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:56677793..56873304hg38UCSC Ensembl
Innerchr2:56904928..57100439hg19UCSC Ensembl
Innerchr2:56758432..56953943hg18UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38195512
hg19195512
hg18195512
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3576692
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1007347
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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