A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1115016



Internal ID18905419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:140700265..140700330hg38UCSC Ensembl
Outerchr7:140400065..140400130hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3975319
SamplesKWS2
Known GenesNDUFB2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1115016
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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