A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3978247



Internal ID18879663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152277815..152285415hg38UCSC Ensembl
Outerchr7:151974900..151982500hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg387601
hg197601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1139911
Supporting Variants
SamplesKWS2
Known GenesKMT2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3978247
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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