A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115762



Internal ID18909126
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 StatusM
Merged Variantsdgv3702n106
Supporting Variantsnssv3977569
SamplesKWS2
Known GenesKMT2C
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115762
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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