A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1133671



Internal ID18916185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:139572454..139573054hg38UCSC Ensembl
Outerchr7:139257200..139257800hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969240
SamplesKWS2
Known GenesHIPK2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1133671
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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