A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004472



Internal ID19093690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:104156896..104192558hg38UCSC Ensembl
Innerchr2:104773354..104809016hg19UCSC Ensembl
Innerchr2:104139786..104175448hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3835663
hg1935663
hg1835663
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580101
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)nsv1004472
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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