A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137297



Internal ID18931783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141747809..141747866hg38UCSC Ensembl
Outerchr7:141447609..141447666hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986766, nssv3975988
SamplesKWS2, KWS1
Known GenesSSBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137297
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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