A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3991749



Internal ID19240833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:69964323..69964736hg38UCSC Ensembl
Outerchr3:70013474..70013887hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38414
hg19414
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139123
Supporting Variants
SamplesKWS2
Known GenesMITF
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3991749
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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