A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012309



Internal ID18754842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:215721161..215994116hg38UCSC Ensembl
Innerchr2:216585884..216858839hg19UCSC Ensembl
Innerchr2:216294129..216567084hg18UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38272956
hg19272956
hg18272956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3585697
Samples
Known GenesLINC00607, MREG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1012309
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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