A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2679



Internal ID15193742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:102450321..102581191hg38UCSC Ensembl
Outerchr7:102090768..102221638hg19UCSC Ensembl
Outerchr7:101877773..102008713hg18UCSC Ensembl
Outerchr7:101684488..101815428hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38130871
hg19130871
hg18130941
hg17130941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5879
Supporting Variants
SamplesNA18555
Known GenesALKBH4, LRWD1, MIR4467, MIR5090, ORAI2, POLR2J, POLR2J3, RASA4, RASA4B, SPDYE2, SPDYE2B
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv2679
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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