A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv608629



Internal ID16049352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:142642726..142785320hg38UCSC Ensembl
Innerchr7:142350234..142493129hg19UCSC Ensembl
Innerchr7:142031222..142193132hg18UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38142595
hg19142896
hg18161911
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11652n54
Supporting Variantsnssv1155914
SamplesHGDP00972
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)nsv608629
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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