A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136158



Internal ID18915906
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:122835153..122835953hg38UCSC Ensembl
Outerchr12:123319700..123320500hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38801
hg19801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3980922, nssv3967753
SamplesKWS2, KWS1
Known GenesHIP1R
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136158
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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