A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1137000



Internal ID19270804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:62314232..62314298hg38UCSC Ensembl
Outerchr5:61610059..61610125hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3986505, nssv3974126
SamplesKWS2, KWS1
Known GenesKIF2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1137000
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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