A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv722863



Internal ID16016819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:115696747..115745061hg38UCSC Ensembl
Innerchr1:116239368..116287682hg19UCSC Ensembl
Innerchr1:116040891..116089205hg18UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3848315
hg1948315
hg1848315
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547585
Supporting Variants
Samples
Known GenesCASQ2, VANGL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv722863
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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