A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1173181



Internal ID15530814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:152541856..152580889hg38UCSC Ensembl
Innerchr1:152514332..152553365hg19UCSC Ensembl
Innerchr1:150780956..150819989hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3839034
hg1939034
hg1839034
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv547864
Supporting Variants
SamplesHGDP00999
Known GenesLCE3D, LCE3E
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1173181
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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