A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994676



Internal ID19214065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:160493289..160494489hg38UCSC Ensembl
Outerchr2:161349800..161351000hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143964
Supporting Variants
SamplesKWS1
Known GenesRBMS1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994676
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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