A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5035



Internal ID15196167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:156657458..156687987hg38UCSC Ensembl
Outerchr7:156450152..156480681hg19UCSC Ensembl
Outerchr7:156142913..156173442hg18UCSC Ensembl
Outerchr7:155949628..155980157hg17UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg388754
hg198754
hg188754
hg178754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6020
Supporting Variants
SamplesNA19129
Known GenesLMBR1, RNF32
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)nssv5035
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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