A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3581983



Internal ID18533578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73627784..73684384hg38UCSC Ensembl
Innerchr2:73854911..73911511hg19UCSC Ensembl
Innerchr2:73708419..73765019hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3856601
hg1956601
hg1856601
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013142
Supporting Variants
Samples
Known GenesALMS1P, NAT8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3581983
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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