A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv723004



Internal ID15670274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:117812479..117961642hg38UCSC Ensembl
Innerchr1:118355101..118504265hg19UCSC Ensembl
Innerchr1:118156624..118305788hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38149164
hg19149165
hg18149165
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547611
Supporting Variants
Samples
Known GenesGDAP2, SPAG17, WDR3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv723004
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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