A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1334



Internal ID15544383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:308159..328644hg38UCSC Ensembl
Outerchr17:157950..178435hg19UCSC Ensembl
Outerchr17:157950..178435hg18UCSC Ensembl
Outerchr17:157950..178435hg17UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg387291
hg197291
hg187291
hg177291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1938
Supporting Variants
SamplesNA19240
Known GenesRPH3AL
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)nssv1334
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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