A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001991



Internal ID18744522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143143534..143169047hg38UCSC Ensembl
Innerchr2:143901103..143926616hg19UCSC Ensembl
Innerchr2:143617573..143643086hg18UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg3825514
hg1925514
hg1825514
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3582819, nssv3582818
Samples
Known GenesARHGAP15
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001991
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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