A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3710



Internal ID15201661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:178851240..178889766hg38UCSC Ensembl
Outerchr1:178820375..178858901hg19UCSC Ensembl
Outerchr1:177086998..177125524hg18UCSC Ensembl
Outerchr1:175552032..175590558hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385015
hg195015
hg185015
hg175015
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3540, nssv10378
SamplesNA12878, NA18956
Known GenesANGPTL1, RALGPS2
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)nsv3710
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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