A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3984797



Internal ID19213840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23384929..23385829hg38UCSC Ensembl
Outerchr2:23607800..23608700hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1126543
Supporting Variants
SamplesKWS1
Known GenesKLHL29
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3984797
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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