A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3994646



Internal ID19210280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:62195765..62196365hg38UCSC Ensembl
Outerchr2:62422900..62423500hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1143939
Supporting Variants
SamplesKWS1
Known GenesB3GNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3994646
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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