A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608402



Internal ID16049125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:128794846..128876416hg38UCSC Ensembl
Innerchr7:128434900..128516470hg19UCSC Ensembl
Innerchr7:128222136..128303706hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3881571
hg1981571
hg1881571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11611n54
Supporting Variantsnssv1094501
Samples
Known GenesATP6V1F, CCDC136, FLNC, LOC100130705
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608402
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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