A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5870



Internal ID15204037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:100845707..100875145hg38UCSC Ensembl
Outerchr7:100443329..100472767hg19UCSC Ensembl
Outerchr7:100281265..100310703hg18UCSC Ensembl
Outerchr7:100087980..100117418hg17UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg387068
hg197068
hg187068
hg177068
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8407
SamplesNA12156
Known GenesMIR6875, SLC12A9, SRRT, TRIP6
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)nsv5870
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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