A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961146



Internal ID19219496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:29245090..29245143hg38UCSC Ensembl
Outerchr2:29467956..29468009hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110737
Supporting Variants
SamplesKWS1
Known GenesALK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961146
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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