A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1011488



Internal ID19100705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:73625398..73682691hg38UCSC Ensembl
Innerchr2:73852525..73909818hg19UCSC Ensembl
Innerchr2:73706033..73763326hg18UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg3857294
hg1957294
hg1857294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3869n100
Supporting Variantsnssv3731973
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)nsv1011488
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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