A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3992271



Internal ID18886684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:36970151..36970208hg38UCSC Ensembl
Outerchr7:37009756..37009813hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140765
Supporting Variants
SamplesKWS2
Known GenesELMO1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3992271
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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