A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137212



Internal ID18923212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:37437674..37438001hg38UCSC Ensembl
Outerchr7:37477277..37477604hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975905
SamplesKWS2
Known GenesELMO1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137212
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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