A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7319



Internal ID15189859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:28772929..28784304hg38UCSC Ensembl
Outerchr17:27099947..27111322hg19UCSC Ensembl
Outerchr17:24124073..24135448hg18UCSC Ensembl
Outerchr17:24124073..24135448hg17UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg385330
hg195330
hg185330
hg175330
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2019
Supporting Variants
SamplesNA12156
Known GenesFAM222B
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)nssv7319
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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