A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv709214



Internal ID15656484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:6546548..6630080hg38UCSC Ensembl
Innerchr1:6606608..6690140hg19UCSC Ensembl
Innerchr1:6529195..6612727hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3883533
hg1983533
hg1883533
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv545269
Supporting Variants
Samples
Known GenesKLHL21, NOL9, PHF13, TAS1R1, THAP3, ZBTB48
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv709214
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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