A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1122172



Internal ID19273249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128406046..128406346hg38UCSC Ensembl
Outerchr7:128046100..128046400hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3969238, nssv3985082
SamplesKWS2, KWS1
Known GenesIMPDH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1122172
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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