A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112761



Internal ID18913520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:84970777..84971977hg38UCSC Ensembl
Outerchr2:85197900..85199100hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg381201
hg191201
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989918, nssv3994650
SamplesKWS2, KWS1
Known GenesKCMF1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112761
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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