A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115562



Internal ID19267784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:76776074..76781274hg38UCSC Ensembl
Outerchr2:77003200..77008400hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3977371
SamplesKWS2
Known GenesLRRTM4
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115562
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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