A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13707155



Internal ID21228949
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51982176..51982176hg38UCSC Ensembl
chr6:51846974..51846974hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2814168
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13707155
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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