A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989756



Internal ID18898431
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 StatusS
Merged Variantsnsv1136151
Supporting Variants
SamplesKWS2
Known GenesHOXC10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989756
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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