A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv919663



Internal ID15866933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:127416243..127426338hg38UCSC Ensembl
Innerchr2:128173819..128183914hg19UCSC Ensembl
Innerchr2:127890289..127900384hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3810096
hg1910096
hg1810096
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv583036
Supporting Variants
Samples
Known GenesMIR4783, PROC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv919663
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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