A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1136151



Internal ID18919109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53984416..53985316hg38UCSC Ensembl
Outerchr12:54378200..54379100hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38901
hg19901
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3989756, nssv3984553
SamplesKWS1, KWS2
Known GenesHOXC10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1136151
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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