A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143939



Internal ID19271731
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 StatusM
Merged Variants
Supporting Variantsnssv3994646
SamplesKWS1
Known GenesB3GNT2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143939
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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