A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv602104



Internal ID16042827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32096949..32203906hg38UCSC Ensembl
Innerchr6:32064726..32171683hg19UCSC Ensembl
Innerchr6:32172704..32279661hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38106958
hg19106958
hg18106958
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1053904
Samples
Known GenesAGER, AGPAT1, ATF6B, EGFL8, FKBPL, GPSM3, LOC100507547, MIR6721, MIR6833, NOTCH4, PBX2, PPT2, PPT2-EGFL8, PRRT1, RNF5, RNF5P1, TNXB
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv602104
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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