A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2085



Internal ID15194682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:39644349..39676840hg38UCSC Ensembl
Outerchr1:40110021..40142512hg19UCSC Ensembl
Outerchr1:39882608..39915099hg18UCSC Ensembl
Outerchr1:39779114..39811605hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg387538
hg197538
hg187538
hg177538
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv577
Supporting Variants
SamplesNA18555
Known GenesNT5C1A
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)nssv2085
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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