A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv49



Internal ID15383518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137316337..137334193hg38UCSC Ensembl
Outerchr9:140210789..140228645hg19UCSC Ensembl
Outerchr9:139330610..139348466hg18UCSC Ensembl
Outerchr9:137486626..137504482hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3810595
hg1910595
hg1810595
hg1710595
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv49
Supporting Variants
SamplesNA15510
Known GenesEXD3
MethodSequencing
AnalysisFosmids were categorized as discordant if the in silico size was in excess of three standard deviations from the mean (<32 or 48> kb) and/or showed incorrect orientation of ends
PlatformCapillary
Comments
ReferenceTuzun_et_al_2005
Pubmed ID15895083
Accession Number(s)nssv49
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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