A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3975904



Internal ID18890449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:37006975..37007034hg38UCSC Ensembl
Outerchr7:37046580..37046639hg19UCSC Ensembl
Cytoband7p14.2
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1137211
Supporting Variants
SamplesKWS2
Known GenesELMO1, ELMO1-AS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3975904
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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