A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1135743



Internal ID18930912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:112502365..112502456hg38UCSC Ensembl
Outerchr9:115264645..115264736hg19UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4127n106
Supporting Variantsnssv3975040, nssv3965898
SamplesKWS2, KWS1
Known GenesKIAA1958
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1135743
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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