A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3586958



Internal ID18538553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:237565331..237600869hg38UCSC Ensembl
Innerchr2:238473974..238509512hg19UCSC Ensembl
Innerchr2:238138713..238174251hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3835539
hg1935539
hg1835539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014762
Supporting Variants
Samples
Known GenesPRLH, RAB17
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3586958
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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