A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602992



Internal ID16043715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:42948182..43110718hg38UCSC Ensembl
Innerchr6:42915920..43078456hg19UCSC Ensembl
Innerchr6:43023898..43186434hg18UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38162537
hg19162537
hg18162537
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1153694
SamplesNINDS_266
Known GenesCUL7, GNMT, KLC4, KLHDC3, MEA1, MRPL2, PEX6, PPP2R5D, PTK7, RRP36
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602992
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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