A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2319



Internal ID15540824
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238123033..238151540hg38UCSC Ensembl
Outerchr2:239031674..239060181hg19UCSC Ensembl
Outerchr2:238696413..238724920hg18UCSC Ensembl
Outerchr2:238813674..238842181hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3811518
hg1911518
hg1811518
hg1711518
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3231
Supporting Variants
SamplesNA18555
Known GenesESPNL, KLHL30
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)nssv2319
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer