A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3582049



Internal ID18880330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76755420..76841588hg38UCSC Ensembl
Innerchr2:76982546..77068714hg19UCSC Ensembl
Innerchr2:76836054..76922222hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3886169
hg1986169
hg1886169
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011401
Supporting Variants
Samples
Known GenesLRRTM4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3582049
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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