A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3491815



Internal ID18732770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:202164648..202260980hg38UCSC Ensembl
Innerchr1:202133776..202230108hg19UCSC Ensembl
Innerchr1:200400399..200496731hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3896333
hg1996333
hg1896333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1010102
Supporting Variants
Samples
Known GenesLGR6, PTPRVP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3491815
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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