A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1124251



Internal ID19266635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:101417610..101417674hg38UCSC Ensembl
Outerchr7:101060891..101060955hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3865
hg1965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3958324, nssv3975559
SamplesKWS2, KWS1
Known GenesCOL26A1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1124251
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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