A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125907



Internal ID19262274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:20681032..20711778hg38UCSC Ensembl
Outerchr7:20720655..20751401hg19UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg3830747
hg1930747
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3993985, nssv3988376
SamplesKWS2, KWS1
Known GenesABCB5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125907
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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