A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2113



Internal ID15546676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:61458583..61490624hg38UCSC Ensembl
Outerchr17:59535944..59567985hg19UCSC Ensembl
Outerchr17:56890726..56922767hg18UCSC Ensembl
Outerchr17:56890726..56922767hg17UCSC Ensembl
Cytoband17q23.2
Allele length
AssemblyAllele length
hg387384
hg197384
hg187384
hg177384
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6727
SamplesNA12156
Known GenesTBX4
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)nsv2113
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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