A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173019



Internal ID15879274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:72169229..72241543hg38UCSC Ensembl
Innerchr1:72634912..72707226hg19UCSC Ensembl
Innerchr1:72407500..72479814hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3872315
hg1972315
hg1872315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv546485
Supporting Variants
SamplesHGDP01337
Known GenesNEGR1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173019
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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