A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3729170



Internal ID18680765
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:100423494..100489186hg38UCSC Ensembl
Innerchr2:101039956..101105648hg19UCSC Ensembl
Innerchr2:100406388..100472080hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3865693
hg1965693
hg1865693
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011990
Supporting Variants
Samples
Known GenesNMS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3729170
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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