A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4974



Internal ID15197378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:30496865..30524977hg38UCSC Ensembl
Outerchr7:30536481..30564593hg19UCSC Ensembl
Outerchr7:30503006..30531118hg18UCSC Ensembl
Outerchr7:30309721..30337833hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg3811175
hg1911175
hg1811175
hg1711175
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5684
Supporting Variants
SamplesNA19129
Known GenesGGCT
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)nssv4974
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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