A curated catalogue of human genomic structural variation

Variant Details

Variant: nsv515619

Internal ID

15443230

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:207480656..207498338	hg38	UCSC Ensembl
Inner	chr2:208345380..208363062	hg19	UCSC Ensembl
Inner	chr2:208053625..208071307	hg18	UCSC Ensembl
Inner	chr2:208170886..208188568	hg17	UCSC Ensembl

Cytoband

2q33.3

Allele length

Assembly	Allele length
hg38	17683
hg19	17683
hg18	17683
hg17	17683

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

M

Merged Variants

Supporting Variants

nssv674933, nssv669065, nssv672565, nssv684677, nssv689091, nssv675024, nssv683926, nssv672137, nssv693011, nssv660993, nssv653505, nssv661170, nssv671608, nssv654698, nssv660126, nssv656746, nssv677263, nssv671570, nssv665629, nssv656121, nssv686913, nssv653979, nssv671491, nssv689626, nssv674951, nssv664199, nssv679697, nssv692630, nssv675003, nssv672226, nssv676150, nssv662559, nssv688956, nssv660674, nssv661905, nssv697807, nssv658579, nssv663854, nssv653431, nssv692819, nssv677616, nssv682023, nssv686449, nssv687213, nssv682265, nssv668273, nssv655330, nssv651909, nssv675989, nssv663732, nssv683709, nssv657142, nssv691726, nssv666757, nssv690680, nssv654101, nssv680304, nssv677558, nssv692469, nssv658915, nssv693149, nssv657251, nssv689310, nssv657816, nssv657919, nssv691503, nssv685375, nssv658173, nssv693546, nssv679757, nssv660652, nssv678672, nssv686421, nssv674216, nssv693961, nssv651940, nssv686621, nssv683023, nssv667545, nssv667654, nssv688395, nssv666875, nssv685164, nssv654242, nssv687817, nssv677491, nssv689732, nssv673376, nssv685944, nssv682846, nssv669134, nssv652471, nssv665707, nssv692004, nssv679003, nssv674494, nssv667795, nssv674051, nssv660250, nssv673828, nssv676865, nssv684333, nssv687476, nssv655449, nssv659900, nssv693464, nssv660077, nssv680411, nssv666285, nssv657204, nssv658737, nssv662202, nssv682176, nssv673142, nssv672925, nssv653001, nssv672844, nssv670882, nssv653462, nssv672963, nssv656042, nssv662885, nssv654934, nssv687549, nssv688685, nssv656212, nssv669646, nssv666298, nssv685580, nssv662493, nssv672284, nssv679500, nssv676609, nssv663043, nssv683286, nssv684547, nssv655861, nssv654846, nssv691330, nssv688424, nssv676588, nssv688720, nssv679663, nssv672030, nssv683673, nssv675469, nssv656233, nssv667201, nssv690605, nssv679950, nssv676907, nssv656358, nssv674121, nssv664084, nssv662987, nssv667501, nssv674343, nssv693313, nssv676263, nssv656636, nssv655284, nssv680672, nssv693035, nssv681482, nssv680242, nssv670069, nssv668426, nssv666257, nssv685645, nssv653884, nssv691696, nssv662426, nssv684734, nssv669035, nssv673997, nssv693718, nssv657185, nssv679229, nssv678323, nssv690630, nssv685141, nssv674590, nssv680819, nssv675410, nssv693570, nssv676281, nssv678221, nssv689844, nssv671004, nssv691522, nssv684784, nssv668906, nssv667427, nssv662344, nssv659661, nssv683079, nssv665081, nssv661682, nssv658557, nssv670915, nssv652716, nssv686930, nssv661807, nssv691714, nssv679023, nssv669847, nssv672663, nssv670962, nssv681408, nssv668478, nssv665289, nssv662905, nssv684530, nssv662836, nssv655263, nssv676747, nssv668922, nssv682036, nssv669433, nssv663610, nssv655119, nssv654539, nssv676823, nssv669404, nssv659801, nssv678910, nssv679561, nssv660197, nssv653283, nssv668249, nssv683190, nssv661518, nssv670205, nssv658093, nssv685227, nssv672678, nssv652218, nssv660159, nssv669833, nssv653310, nssv683825, nssv658854, nssv662408, nssv654180, nssv690778, nssv687638, nssv680555, nssv673508, nssv656612, nssv682657, nssv659246, nssv684208, nssv685776, nssv656096, nssv692971, nssv675937, nssv665839, nssv686385, nssv677948, nssv692674, nssv681972, nssv667857, nssv680838, nssv671208, nssv658299, nssv667446, nssv656473, nssv682047, nssv688026, nssv658655, nssv690891, nssv689176, nssv666715, nssv689459, nssv663188, nssv664553, nssv662251, nssv690195, nssv687264, nssv669902, nssv667049, nssv670242, nssv668407, nssv662624, nssv652977, nssv664873, nssv659175, nssv656841

Samples

Known Genes

Method

SNP array

Analysis

Sample-level CNVs

Platform

GPL6434

Comments

Reference

Shaikh_et_al_2009

Pubmed ID

Accession Number(s)

Frequency

Sample Size	2026
Observed Gain	0
Observed Loss	288
Observed Complex	0
Frequency	n/a