A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv713074



Internal ID15660344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:52142030..52144342hg38UCSC Ensembl
Innerchr1:52607702..52610014hg19UCSC Ensembl
Innerchr1:52380290..52382602hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg382313
hg192313
hg182313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546236
Supporting Variants
Samples
Known GenesZFYVE9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv713074
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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