A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056785



Internal ID18799316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:43506218..43577449hg38UCSC Ensembl
Innerchr19:44010370..44081601hg19UCSC Ensembl
Innerchr19:48702210..48773441hg18UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3871232
hg1971232
hg1871232
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3573779
Samples
Known GenesETHE1, PINLYP, XRCC1, ZNF575
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056785
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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