A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001995



Internal ID19091212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:125749162..126556911hg38UCSC Ensembl
Innerchr2:126506739..127314488hg19UCSC Ensembl
Innerchr2:126223209..127030958hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38807750
hg19807750
hg18807750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580716
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)nsv1001995
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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