A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1004678



Internal ID18747209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:63003587..63335349hg38UCSC Ensembl
Innerchr2:63230722..63562484hg19UCSC Ensembl
Innerchr2:63084226..63415988hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38331763
hg19331763
hg18331763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3730854
Samples
Known GenesDBIL5P2, EHBP1, LOC100132215, OTX1, WDPCP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1004678
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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