A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685



Internal ID15550519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:31061531..31094994hg38UCSC Ensembl
Outerchr7:31101147..31134608hg19UCSC Ensembl
Outerchr7:31067672..31101133hg18UCSC Ensembl
Outerchr7:30874387..30907848hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg387530
hg197530
hg187530
hg177530
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620
SamplesNA19240
Known GenesADCYAP1R1
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)nsv5685
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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