A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1148557



Internal ID15874139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20893225..20964296hg38UCSC Ensembl
Innerchr14:21361384..21432455hg19UCSC Ensembl
Innerchr14:20431224..20502295hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3871072
hg1971072
hg1871072
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv563850
Supporting Variants
SamplesHGDP00472
Known GenesECRP, RNASE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1148557
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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