A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994830



Internal ID19223463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:62305973..62306573hg38UCSC Ensembl
Outerchr5:61601800..61602400hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1144107
Supporting Variants
SamplesKWS1
Known GenesKIF2A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994830
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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