A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3977569



Internal ID18885126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:152379715..152384915hg38UCSC Ensembl
Outerchr7:152076800..152082000hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg385201
hg195201
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1115762
Supporting Variants
SamplesKWS2
Known GenesKMT2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3977569
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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