A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608626



Internal ID16049349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142625892..142809818hg38UCSC Ensembl
Innerchr7:142333406..142507502hg19UCSC Ensembl
Innerchr7:142014398..142217629hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38183927
hg19174097
hg18203232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11652n54
Supporting Variantsnssv1155911
SamplesHGDP01311
Known GenesMTRNR2L6, PRSS1, PRSS2, PRSS3P2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv608626
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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