A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135554



Internal ID19266123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:170135502..170135811hg38UCSC Ensembl
Outerchr2:170992012..170992321hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2091n106
Supporting Variantsnssv3989122, nssv3989784
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135554
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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