A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124062



Internal ID18935040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:51871311..51872006hg38UCSC Ensembl
Outerchr6:51736109..51736804hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3315n106
Supporting Variantsnssv3974243, nssv3972183
SamplesKWS2, KWS1
Known GenesPKHD1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124062
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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