A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001299



Internal ID18743830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:31205164..31241519hg38UCSC Ensembl
Innerchr2:31428030..31464385hg19UCSC Ensembl
Innerchr2:31281534..31317889hg18UCSC Ensembl
Cytoband2p23.1
Allele length
AssemblyAllele length
hg3836356
hg1936356
hg1836356
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3746n100
Supporting Variantsnssv3579147
Samples
Known GenesCAPN14, EHD3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001299
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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