A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1374



Internal ID15197653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:48928271..48962703hg38UCSC Ensembl
Outerchr17:47005633..47040065hg19UCSC Ensembl
Outerchr17:44360632..44395064hg18UCSC Ensembl
Outerchr17:44360632..44395064hg17UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg386549
hg196549
hg186549
hg176549
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2073
Supporting Variants
SamplesNA19240
Known GenesGIP, SNF8, UBE2Z
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)nssv1374
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