A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124063



Internal ID19272484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:53144568..53144628hg38UCSC Ensembl
Outerchr6:53009366..53009426hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3957702, nssv3975085
SamplesKWS2, KWS1
Known GenesGCM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124063
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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