A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3989987



Internal ID19226337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:58491573..58492573hg38UCSC Ensembl
Outerchr3:58477300..58478300hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1136364
Supporting Variants
SamplesKWS2
Known GenesKCTD6
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3989987
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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