A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3988654



Internal ID19239611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:181491201..181491556hg38UCSC Ensembl
Outerchr2:182355928..182356283hg19UCSC Ensembl
Cytoband2q31.3
Allele length
AssemblyAllele length
hg38356
hg19356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1135102
Supporting Variants
SamplesKWS2
Known GenesITGA4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3988654
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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