A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6254



Internal ID15537609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:129737251..129748929hg38UCSC Ensembl
Outerchr8:130749497..130761175hg19UCSC Ensembl
Outerchr8:130818679..130830357hg18UCSC Ensembl
Outerchr8:130818679..130830357hg17UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg388778
hg198778
hg188778
hg178778
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv6395
Supporting Variants
SamplesNA12156
Known GenesGSDMC
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nssv6254
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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