A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10378



Internal ID15195734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:178857150..178889766hg38UCSC Ensembl
Outerchr1:178826285..178858901hg19UCSC Ensembl
Outerchr1:177092908..177125524hg18UCSC Ensembl
Outerchr1:175557942..175590558hg17UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg386889
hg196889
hg186889
hg176889
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3710
Supporting Variants
SamplesNA18956
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)nssv10378
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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