A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2048



Internal ID8513593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:39718682..39742588hg38UCSC Ensembl
Outerchr17:37874935..37898841hg19UCSC Ensembl
Outerchr17:35128461..35152367hg18UCSC Ensembl
Outerchr17:35128461..35152367hg17UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg387506
hg197506
hg187506
hg177506
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2966
SamplesNA18555
Known GenesERBB2, GRB7, MIEN1, MIR4728
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)nsv2048
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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