A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14029777



Internal ID21162480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chrY:5695075..5695075hg38UCSC Ensembl
chrY:5563116..5563116hg19UCSC Ensembl
CytobandYp11.2
Allele length
AssemblyAllele length
hg3883
hg1983
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3048440
Supporting Variants
SamplesNA12878
Known GenesPCDH11Y
MethodSequencing
AnalysisCombines the NGS (e.g., Illumina) and SMS (e.g., Pacbio) for detecting large and small SVs (parameters the same as commit eee31f6 of https://bitbucket.org/xianfan/hybridassemblysv)
Platform
Comments
ReferenceFan_et_al_2017
Pubmed ID28104618
Accession Number(s)nssv14029777
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer