A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3577303



Internal ID18875584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:71551985..71612684hg38UCSC Ensembl
Innerchr2:71779115..71839814hg19UCSC Ensembl
Innerchr2:71632623..71693322hg18UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg3860700
hg1960700
hg1860700
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1002171
Supporting Variants
Samples
Known GenesDYSF
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3577303
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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